A giant solitary Peutz-Jeghers-type polyp in the gastric body.

A 24-year-old young female presented to our hospital with gastrointestinal bleeding for four days. The patient had no family history of polyps or cancer. There were no pigment spots on her skin, lips, or oral mucosa.

A giant colorectal juvenile polyp in an adult.

A 24-year-old man presented to our hospital because he found that his stool with intermittent blood for one month. The patient was healthy in the past. The patient had no family history of colorectal polyps or cancer.

Spontaneous esophageal submucosal hematoma.

A 57-year-old woman presented to our hospital with chest distension, sore throat and back discomfort beginning the previous day after taking 5 panax notoginseng capsules. She had a history of hypertension for more than 2 years. Physical examination was unremarkable.

Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.

Purpose: The objective of this study is to assess the carrier frequency and pathogenic variation of monogenetic diseases in a population of 114 subjects in Han Chinese from Hebei province who are undergoing assisted reproductive technology through the utilization of Expanded Carrier Screening (ECS).

Methods: The study utilized a panel consisting of 155 severe monogenic recessive genetic diseases for ECS. Next-generation sequencing technology was employed to identify specific variants associated with ECS in a cohort of 114 subjects from 97 couples, comprising 97 females and 17 male spouses.

Correlation analysis between the amniotic fluid contamination and clinical grading of neonatal hypoxic-ischemic encephalopathy and biomarkers of brain damage.

Background: Amniotic fluid contamination (AFC) is a risk factor for neonatal hypoxic ischemic encephalopathy (HIE); however, the correlation between AFC level and the incidence and clinical grading of HIE, in addition to relevant biomarkers of brain damage, have not been assessed.

Methods: This single-center observational study included 75 neonates with moderate-to-severe HIE. The neonates with HIE were divided into four subgroups according to the AFC level: normal amniotic fluid with HIE group (NAF-HIE), I°AFC with HIE group (I°AFC-HIE), II°AFC with HIE group (II°AFC-HIE), and III°AFC with HIE group (III°AFC-HIE).

Differentiation of umbilical cord mesenchymal stem cells into hepatocytes with CYP450 metabolic enzyme activity induced by a liver injury microenvironment.

The aim of this study was to observe the effect of a simulated liver tissue injury microenvironment on the directed differentiation of umbilical cord mesenchymal stem cells into hepatocytes with CYP450 metabolic activity in vitro, and to explore the mechanisms underlying this directed differentiation. Normal and damaged liver tissue homogenate supernatants (LHS and CCl-LHS, respectively) were used as induction fluids. After induction for different durations, Western blot and RT-PCR were used to measure the protein and gene expression of the hepatocellular proteins AFP, CK18, ALB, and the CYP450 family.

Novel variants of associated with neonatal arthrogryposis: Two case reports and a literature review.

Pathogenic variants in (MIM: 609798) have been identified in patients with lethal congenital contracture syndrome 10 (OMIM: 617022) and arthrogryposis, Perthes disease, and upward gaze palsy (APUG and OMIM: 614262). The shared core phenotype is multiple joint contractures or arthrogryposis. In the present study, three novel variants of associated with neonatal arthrogryposis were reported.

Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.

Cobalamin C (cblC) disease and Mowat-Wilson syndrome (MWS) are rare hereditary diseases. To date, there have been no reports of people suffering from these two genetic diseases, or whether there is any correlation between the two diseases. We reported a 2-year-old girl with both cblC disease and MWS.

Type B lactic acidosis associated with diffuse large B-cell lymphoma and the Warburg effect.

Type B lactic acidosis is a rare complication of non-tissue perfusion abnormalities caused by solid tumors or hematologic malignancies. Herein, we present the case of a 42-year-old man with type B lactic acidosis and hypoglycemia who was found to have a diffuse large B-cell lymphoma. The cause of lactic acidosis and/or hypoglycemia is thought to be the Warburg effect, which is when the metabolic rate of a rapidly growing malignant tumor is very high and dominated by glycolysis.

Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.

Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare X-linked recessive genetic disease resulting from deficient activity of the iduronate-2-sulfatase(IDS) enzyme and the accumulation of glycosaminoglycans in almost all cells, tissues and organs, which makes viscera function impaired.This study retrospectively analyzed the clinical characteristics, leukocyte IDS activity and mutations in the IDS gene of 30 Chinese children with MPS II.

Methods: Whole-exome sequencing (WES) was performed on samples of the 30 patients.

Interhemispheric resting-state functional connectivity abnormalities in type 2 diabetes patients.

Background: There has been a considerable focus on the changes of functional connections between brain regions in patients with type 2 diabetes mellitus (T2DM) by previous resting-state functional magnetic resonance imaging (rs-fMRI) studies. However, little is known about the function of brain information integration between the two hemispheres of the brain. This study explores differences in interhemispheric coordination between T2DM patients and normal control (NC) subjects using the voxel-mirrored homotopic connectivity (VMHC) method.